/pheochromocytoma/paraganglioma syndrome 1

pheochromocytoma/paraganglioma syndrome 1

Rare Disease

MONDO:0008192

Also Known As

SDHD paragangliomaSDHD-related tumor predispositionparaganglioma caused by mutation in SDHDparagangliomas 1paragangliomas 1, with or without deafnessparagangliomas type 1pheochromocytoma/paraganglioma syndrome 1PGL1Paragangliomatacarotid body tumorscarotid body tumourschemodectomasglomus jugulare tumorsglomus jugulare tumoursglomus tumors, familial, 1paraganglioma, carotid bodyparagangliomas with sensorineural hearing lossparagangliomas, familial nonchromaffin, 1paragangliomas, familial, 1

Definition

An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHD gene, characterized by an increased risk of paraganglioma and pheochromocytoma, as well as an increased risk of renal cell carcinoma and gastrointestinal stromal tumors (GIST).